Campagne, Lancewell (2021) Osteogenesis Imperfecta, disease analysis and the opportunities and challenges of CRISPR/Cas9 genetic editing treatment. Master's Research Project 2, Biomedical Sciences.
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Abstract
Osteogenesis imperfecta is caused by mutations in the COL1A1 or COL1A2 gene that result in detrimental changes of the collagen structure. There are 4 main variations of OI with disease severity and effectiveness of the limited treatments largely determined by the type of mutation. The main consequences of these mutations include a lower BMD, high risk of fractures, blue sclerae, thinner collagen fibres and a hypermineralized bone matrix. In OI patients, these symptoms and their interactions can be altered to varying degrees of severity, underlining the need for patient-specific treatment. The currently available treatments for OI focus on reducing bone turnover, fracture rate and overall discomfort. Appropriate treatment which fundamentally changes not the quantity, but quality of the bone is currently completely absent. A study from Yin et al. 2014 has already successfully corrected a genetic disorder (Type I tyrosinemia) in vivo by using CRISPR/Cas9 genome editing. Despite real progress in the field of genetic editing with CRISPR/Cas9, many uncertainties remain and should be addressed. As of the time of writing, it can be concluded that CRISPR/Cas9 treatment for OI is currently not viable, but a promising and ambitious future prospect.
| Item Type: | Thesis (Master's Research Project 2) |
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| Supervisor name: | Bank, R.A. and Krenning, G. |
| Degree programme: | Biomedical Sciences |
| Thesis type: | Master's Research Project 2 |
| Language: | English |
| Date Deposited: | 19 Jan 2022 09:13 |
| Last Modified: | 19 Jan 2022 09:13 |
| URI: | https://fse.studenttheses.ub.rug.nl/id/eprint/26479 |
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